Product Details

SNP ID
rs201309046
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22221469 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCCAGGGTGCCCAGGGACAGGT[C/T]GACGGGCTCAGTGTAGATGATCTCC
Phenotype
MIM: 112264 MIM: 608511
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BMP1 PubMed Links

Gene Details

Gene
BMP1
Gene Name
bone morphogenetic protein 1
There are no transcripts associated with this gene.

Gene
PHYHIP
Gene Name
phytanoyl-CoA 2-hydroxylase interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099335.1 1714 Missense Mutation AAC,GAC N293D NP_001092805.1
NM_014759.3 1714 Missense Mutation AAC,GAC N293D NP_055574.3
XM_006716416.1 1714 Missense Mutation AAC,GAC N293D XP_006716479.1
XM_017014102.1 1714 Missense Mutation AAC,GAC N160D XP_016869591.1

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